• D E Porter, M E Emerton, F Villanueva-Lopez, and A H Simpson.
• Nuffield Department of Orthopaedic Centre, University of Oxford, Nuffield Orthopaedic Centre, United Kingdom.
• J Pediatr Orthop. 2000 Mar 1;20(2):246-50.

AbstractHereditary multiple exostoses (HME) is traditionally described as a skeletal dysplasia. However, the discovery that the EXT family of tumour suppressor genes are responsible for HME suggests that it is more appropriate to classify HME as a familial neoplastic trait. In a clinical and radiographic analysis of paired bone length and exostoses number and dimensions in a HME cohort, the local presence of osteochondromas was consistently associated with growth disturbance. In particular, an inverse correlation between osteochondroma size and relative bone length (p<0.01) was found. These data suggest that the growth retardation in HME may result from the local effects of enlarging osteochondromas rather than a skeletal dysplasia effect. This study provides the first clinical rationale for ablation of rapidly enlarging exostoses to reduce growth disturbance.

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